Canonical Allele Identifier: CA379371170

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 992130
• ClinVar RCV Id: RCV001280460
• dbSNP Id: rs1319381364
• gnomAD v2: 11-6413156-G-C
• gnomAD v4: 11-6391926-G-C
• MyVariant Identifiers: chr11:g.6413156G>C (hg19) ; chr11:g.6391926G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391926G>C , CM000673.2:g.6391926G>C	GRCh38
NC_000011.9:g.6413156G>C , CM000673.1:g.6413156G>C	GRCh37
NC_000011.8:g.6369732G>C	NCBI36
NG_011780.1:g.6502G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.861G>C MANE Select	ENSP00000340409.4:p.Trp287Cys
ENST00000342245.8:c.861G>C	ENSP00000340409.4:p.Trp287Cys
ENST00000526280.1:c.50G>C
ENST00000527275.5:c.858G>C	ENSP00000435350.1:p.Trp286Cys
ENST00000530395.1:c.42G>C	ENSP00000431479.1:p.Trp14Cys
ENST00000531303.5:c.438+423G>C	ENSP00000432625.1:n.438+423G>C
ENST00000533123.5:c.861G>C	ENSP00000435950.1:p.Trp287Cys
ENST00000533196.1:n.375-80G>C
ENST00000534405.5:c.861G>C	ENSP00000434353.1:p.Trp287Cys
NM_000543.4:c.861G>C	NP_000534.3:p.Trp287Cys
NM_001007593.2:c.858G>C	NP_001007594.2:p.Trp286Cys
XM_005253075.3:c.861G>C	XP_005253132.1:p.Trp287Cys
XM_011520303.1:c.861G>C	XP_011518605.1:p.Trp287Cys
XM_011520304.1:c.861G>C	XP_011518606.1:p.Trp287Cys
XR_930886.1:n.1159G>C
NM_001318087.1:c.861G>C	NP_001305016.1:p.Trp287Cys
NM_001318088.1:c.-101G>C	NP_001305017.1:n.-101G>C
NM_001365135.1:c.861G>C	NP_001352064.1:p.Trp287Cys
NR_027400.2:n.1046G>C
NR_134502.1:n.623+423G>C
XM_011520304.2:c.861G>C	XP_011518606.1:p.Trp287Cys
XR_001747940.2:n.986G>C
XR_002957158.1:n.986G>C
NM_000543.5:c.861G>C MANE Select	NP_000534.3:p.Trp287Cys
NM_001007593.3:c.858G>C	NP_001007594.2:p.Trp286Cys
NM_001318087.2:c.861G>C	NP_001305016.1:p.Trp287Cys
NM_001318088.2:c.-101G>C	NP_001305017.1:n.-101G>C
NM_001365135.2:c.861G>C	NP_001352064.1:p.Trp287Cys
NR_027400.3:n.986G>C
NR_134502.2:n.563+423G>C